NM_000152.5(GAA):c.858+17_858+23del AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Mar 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001591127.19

Allele description [Variation Report for NM_000152.5(GAA):c.858+17_858+23del]

NM_000152.5(GAA):c.858+17_858+23del

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.858+17_858+23del

HGVS:

NC_000017.10:g.78081538_78081544del
NC_000017.11:g.80107732CGGGCGG[1]
NG_009822.1:g.11177CGGGCGG[1]
NM_000152.5:c.858+17_858+23delMANE SELECT
NM_001079803.3:c.858+17_858+23del
NM_001079804.3:c.858+17_858+23del
LRG_673:g.11177CGGGCGG[1]
NC_000017.10:g.78081531CGGGCGG[1]
NC_000017.10:g.78081538_78081544del
NC_000017.10:g.78081538_78081544delCGGGCGG
NC_000017.11:g.80107732CGGGCGG[1]
NM_000152.3:c.858+17_858+23delCGGGCGG
NM_000152.4:c.858+17_858+23delCGGGCGG
NM_000152.5:c.858+17_858+23delCGGGCGGMANE SELECT

Links:

dbSNP: rs1555599723

NCBI 1000 Genomes Browser:

rs1555599723

Molecular consequence:

NM_000152.5:c.858+17_858+23del - intron variant - [Sequence Ontology: SO:0001627]
NM_001079803.3:c.858+17_858+23del - intron variant - [Sequence Ontology: SO:0001627]
NM_001079804.3:c.858+17_858+23del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569348	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 9, 2018)	germline	clinical testing	Citation Link,
SCV004809341	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Mar 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569348

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 9, 2018)

germline

clinical testing

Citation Link,

SCV004809341

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Mar 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569348.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001826669.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004809341.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

GAA: BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001826669	GeneDx	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV001826669 appears to be redundant with SCV000569348. (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 4, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001826669

GeneDx

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV001826669 appears to be redundant with SCV000569348.

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 4, 2018)

germline

clinical testing

Citation Link

Last Updated: Nov 3, 2024

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